Title : Identification of mutations in the gene encoding sterol regulatory element binding protein (SREBP)-2 in hypercholesterolaemic subjects.

Pub. Date : 2002 Apr

PMID : 11950857






1 Functional Relationships(s)
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1 In summary, this is the first report of mutations in the human SREBP-2 gene to suggest that these and/or other mutations in this key regulator of cholesterol metabolism are associated with hypercholesterolaemia. Cholesterol sterol regulatory element binding transcription factor 2 Homo sapiens